The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32.

The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32.

Retinitis pigmentosa (RP) is a severe hereditary eye disorder characterized by progressive degeneration of photoreceptors and subsequent loss of vision. Two of the RP associated mutations were found in the CNGB1 gene that encodes the B subunit of the rod cyclic nucleotide-gated channel (CNGB1a). One...

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Bibliographic Details
Main Authors: Elvir Becirovic, Kostadinka Nakova, Verena Hammelmann, Roman Hennel, Martin Biel, Stylianos Michalakis
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20126465/?tool=EBI

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